Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_000892 | Disease | p.ALA104ASP | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000952 | Disease | p.ALA246ASP | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000993 | Disease | p.ALA309ASP | Phenylketonuria (PKU) |
Swiss-Prot | VAR_001042 | Disease | p.ALA447ASP | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000998 | Disease | p.ALA322GLY | Phenylketonuria (PKU) |
Swiss-Prot | VAR_001030 | Disease | p.ALA395GLY | Phenylketonuria (PKU) |
Swiss-Prot | VAR_001031 | Disease | p.ALA395PRO | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000988 | Disease | p.ALA300SER | Phenylketonuria (PKU) |
Swiss-Prot | VAR_001009 | Disease | p.ALA345SER | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000962 | Disease | p.ALA259THR | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000999 | Disease | p.ALA322THR | Phenylketonuria (PKU) |
Swiss-Prot | VAR_001007 | Disease | p.ALA342THR | Phenylketonuria (PKU) |
Swiss-Prot | VAR_001010 | Disease | p.ALA345THR | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000963 | Disease | p.ALA259VAL | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000989 | Disease | p.ALA300VAL | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000994 | Disease | p.ALA309VAL | Phenylketonuria (PKU) |
Swiss-Prot | VAR_067759 | Disease | p.ALA322VAL | Phenylketonuria (PKU) |
Swiss-Prot | VAR_001033 | Disease | p.ALA403VAL | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000876 | Disease | p.ALA47VAL | Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) |
Swiss-Prot | VAR_000900 | Disease | p.ARG157ASN | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000943 | Disease | p.ARG241CYS | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000985 | Disease | p.ARG297CYS | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000901 | Disease | p.ARG158GLN | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000947 | Disease | p.ARG243GLN | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000957 | Disease | p.ARG252GLN | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000965 | Disease | p.ARG261GLN | Phenylketonuria (PKU) |
Swiss-Prot | VAR_001034 | Disease | p.ARG408GLN | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000956 | Disease | p.ARG252GLY | Phenylketonuria (PKU) |
Swiss-Prot | VAR_011568 | Disease | p.ARG169HIS | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000944 | Disease | p.ARG241HIS | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000986 | Disease | p.ARG297HIS | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000878 | Disease | p.ARG53HIS | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000913 | Disease | p.ARG176LEU | Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) |
Swiss-Prot | VAR_000945 | Disease | p.ARG241LEU | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000970 | Disease | p.ARG270LYS | Phenylketonuria (PKU) |
Swiss-Prot | VAR_009242 | Disease | p.ARG155PRO | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000914 | Disease | p.ARG176PRO | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000964 | Disease | p.ARG261PRO | Phenylketonuria (PKU) |
Swiss-Prot | VAR_001036 | Disease | p.ARG413PRO | Phenylketonuria (PKU) |
Swiss-Prot | VAR_068000 | Disease | p.ARG157SER | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000971 | Disease | p.ARG270SER | Phenylketonuria (PKU) |
Swiss-Prot | VAR_001037 | Disease | p.ARG413SER | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000885 | Disease | p.ARG68SER | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000902 | Disease | p.ARG158TRP | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000958 | Disease | p.ARG252TRP | Phenylketonuria (PKU) |
Swiss-Prot | VAR_001035 | Disease | p.ARG408TRP | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000926 | Disease | p.ASN207ASP | Phenylketonuria (PKU) |
Swiss-Prot | VAR_067995 | Disease | p.ASN61ASP | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000906 | Disease | p.ASN167ILE | Phenylketonuria (PKU) |
Swiss-Prot | VAR_011567 | Disease | p.ASN167SER | Hyperphenylalaninemia (HPA) |
Swiss-Prot | VAR_000927 | Disease | p.ASN207SER | Phenylketonuria (PKU) |
Swiss-Prot | VAR_001028 | Disease | p.ASP394ALA | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000982 | Disease | p.ASP282ASN | Phenylketonuria (PKU) |
Swiss-Prot | VAR_001039 | Disease | p.ASP415ASN | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000895 | Disease | p.ASP143GLY | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000898 | Disease | p.ASP151HIS | Phenylketonuria (PKU) |
Swiss-Prot | VAR_001029 | Disease | p.ASP394HIS | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000894 | Disease | p.ASP129TYR | Phenylketonuria (PKU) |
Swiss-Prot | VAR_001004 | Disease | p.ASP338TYR | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000887 | Disease | p.ASP84TYR | Phenylketonuria (PKU) |
Swiss-Prot | VAR_011566 | Disease | p.ASP145VAL | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000934 | Disease | p.ASP222VAL | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000931 | Disease | p.CYS217GLY | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000968 | Disease | p.CYS265GLY | Phenylketonuria (PKU) |
Swiss-Prot | VAR_011575 | Disease | p.CYS357GLY | Phenylketonuria (PKU) |
Swiss-Prot | VAR_001002 | Disease | p.CYS334SER | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000991 | Disease | p.GLN304ARG | Phenylketonuria (PKU) |
Swiss-Prot | VAR_068003 | Disease | p.GLN226HIS | Phenylketonuria (PKU) |
Swiss-Prot | VAR_009239 | Disease | p.GLN20LEU | Hyperphenylalaninemia (HPA) |
Swiss-Prot | VAR_000903 | Disease | p.GLN160PRO | Phenylketonuria (PKU) |
Swiss-Prot | VAR_011571 | Disease | p.GLU205ALA | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000886 | Disease | p.GLU76ALA | Phenylketonuria (PKU) |
Swiss-Prot | VAR_009246 | Disease | p.GLU330ASP | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000880 | Disease | p.GLU56ASP | Phenylketonuria (PKU) |
Swiss-Prot | VAR_009243 | Disease | p.GLU183GLN | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000916 | Disease | p.GLU178GLY | Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) |
Swiss-Prot | VAR_000933 | Disease | p.GLU221GLY | Phenylketonuria (PKU) |
Swiss-Prot | VAR_001027 | Disease | p.GLU390GLY | Phenylketonuria (PKU) |
Swiss-Prot | VAR_067999 | Disease | p.GLU76GLY | Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) |
Swiss-Prot | VAR_000980 | Disease | p.GLU280LYS | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000908 | Disease | p.GLY171ALA | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000909 | Disease | p.GLY171ARG | Phenylketonuria (PKU) |
Swiss-Prot | VAR_009247 | Disease | p.GLY344ARG | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000961 | Disease | p.GLY257CYS | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000897 | Disease | p.GLY148SER | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000942 | Disease | p.GLY239SER | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000875 | Disease | p.GLY46SER | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000932 | Disease | p.GLY218VAL | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000953 | Disease | p.GLY247VAL | Phenylketonuria (PKU) |
Swiss-Prot | VAR_001003 | Disease | p.GLY337VAL | Phenylketonuria (PKU) |
Swiss-Prot | VAR_009248 | Disease | p.GLY344VAL | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000907 | Disease | p.HIS170ARG | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000922 | Disease | p.HIS201ARG | Phenylketonuria (PKU) |
Swiss-Prot | VAR_011569 | Disease | p.HIS170ASP | Hyperphenylalaninemia (HPA) |
Swiss-Prot | VAR_068001 | Disease | p.HIS170GLN | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000967 | Disease | p.HIS264LEU | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000896 | Disease | p.HIS146TYR | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000923 | Disease | p.HIS201TYR | Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) |
Swiss-Prot | VAR_000972 | Disease | p.HIS271TYR | Phenylketonuria (PKU) |
Swiss-Prot | VAR_067758 | Disease | p.HIS290TYR | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000984 | Disease | p.ILE283ASN | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000882 | Disease | p.ILE65ASN | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000969 | Disease | p.ILE269LEU | Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) |
Swiss-Prot | VAR_000935 | Disease | p.ILE224MET | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000983 | Disease | p.ILE283PHE | Phenylketonuria (PKU) |
Swiss-Prot | VAR_067760 | Disease | p.ILE421SER | Phenylketonuria (PKU) |
Swiss-Prot | VAR_067997 | Disease | p.ILE65SER | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000905 | Disease | p.ILE164THR | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000911 | Disease | p.ILE174THR | Phenylketonuria (PKU) |
Swiss-Prot | VAR_011574 | Disease | p.ILE318THR | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000883 | Disease | p.ILE65THR | Phenylketonuria (PKU) |
Swiss-Prot | VAR_011570 | Disease | p.ILE174VAL | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000992 | Disease | p.ILE306VAL | Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) |
Swiss-Prot | VAR_067998 | Disease | p.ILE65VAL | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000946 | Disease | p.LEU242PHE | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000955 | Disease | p.LEU249PHE | Phenylketonuria (PKU) |
Swiss-Prot | VAR_001001 | Disease | p.LEU333PHE | Phenylketonuria (PKU) |
Swiss-Prot | VAR_001011 | Disease | p.LEU347PHE | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000873 | Disease | p.LEU41PHE | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000918 | Disease | p.LEU194PRO | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000929 | Disease | p.LEU212PRO | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000930 | Disease | p.LEU213PRO | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000954 | Disease | p.LEU248PRO | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000996 | Disease | p.LEU311PRO | Phenylketonuria (PKU) |
Swiss-Prot | VAR_009240 | Disease | p.LEU41PRO | Phenylketonuria (PKU) |
Swiss-Prot | VAR_001041 | Disease | p.LEU430PRO | Phenylketonuria (PKU) |
Swiss-Prot | VAR_067996 | Disease | p.LEU62PRO | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000960 | Disease | p.LEU255SER | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000877 | Disease | p.LEU48SER | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000891 | Disease | p.LEU98SER | Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) |
Swiss-Prot | VAR_000959 | Disease | p.LEU255VAL | Phenylketonuria (PKU) |
Swiss-Prot | VAR_001012 | Disease | p.LEU348VAL | Phenylketonuria (PKU) |
Swiss-Prot | VAR_001005 | Disease | p.LYS341ARG | Phenylketonuria (PKU) |
Swiss-Prot | VAR_011573 | Polymorphism | p.LYS274GLU | N/A |
Swiss-Prot | VAR_000874 | Disease | p.LYS42ILE | Phenylketonuria (PKU) |
Swiss-Prot | VAR_001006 | Disease | p.LYS341THR | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000974 | Disease | p.MET276ILE | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000975 | Disease | p.MET276VAL | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000987 | Disease | p.PHE299CYS | Phenylketonuria (PKU) |
Swiss-Prot | VAR_069776 | Disease | p.PHE121LEU | Hyperphenylalaninemia (HPA) |
Swiss-Prot | VAR_000940 | Disease | p.PHE233LEU | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000966 | Disease | p.PHE263LEU | Phenylketonuria (PKU) |
Swiss-Prot | VAR_001000 | Disease | p.PHE331LEU | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000870 | Disease | p.PHE39LEU | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000879 | Disease | p.PHE55LEU | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000904 | Disease | p.PHE161SER | Phenylketonuria (PKU) |
Swiss-Prot | VAR_011572 | Disease | p.PHE240SER | Phenylketonuria (PKU) |
Swiss-Prot | VAR_009249 | Disease | p.PHE410SER | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000912 | Disease | p.PRO175ALA | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000936 | Disease | p.PRO225ARG | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000997 | Disease | p.PRO314HIS | Phenylketonuria (PKU) |
Swiss-Prot | VAR_001019 | Disease | p.PRO366HIS | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000948 | Disease | p.PRO244LEU | Phenylketonuria (PKU) |
Swiss-Prot | VAR_068004 | Disease | p.PRO275LEU | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000981 | Disease | p.PRO281LEU | Phenylketonuria (PKU) |
Swiss-Prot | VAR_068007 | Disease | p.PRO407LEU | Phenylketonuria (PKU) |
Swiss-Prot | VAR_068006 | Disease | p.PRO314SER | Hyperphenylalaninemia (HPA) |
Swiss-Prot | VAR_011576 | Disease | p.PRO407SER | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000910 | Disease | p.PRO173THR | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000928 | Disease | p.PRO211THR | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000937 | Disease | p.PRO225THR | Phenylketonuria (PKU) |
Swiss-Prot | VAR_001016 | Disease | p.PRO362THR | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000888 | Disease | p.SER87ARG | Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) |
Swiss-Prot | VAR_009241 | Disease | p.SER110CYS | Hyperphenylalaninemia (HPA) |
Swiss-Prot | VAR_001013 | Disease | p.SER349LEU | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000872 | Disease | p.SER40LEU | Phenylketonuria (PKU) |
Swiss-Prot | VAR_009244 | Disease | p.SER231PHE | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000973 | Disease | p.SER273PHE | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000995 | Disease | p.SER310PHE | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000869 | Disease | p.SER16PRO | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000939 | Disease | p.SER231PRO | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000990 | Disease | p.SER303PRO | Phenylketonuria (PKU) |
Swiss-Prot | VAR_001014 | Disease | p.SER349PRO | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000884 | Disease | p.SER67PRO | Phenylketonuria (PKU) |
Swiss-Prot | VAR_001015 | Disease | p.SER350THR | Phenylketonuria (PKU) |
Swiss-Prot | VAR_069777 | Disease | p.SER196TYR | Hyperphenylalaninemia (HPA) |
Swiss-Prot | VAR_068005 | Disease | p.SER310TYR | Hyperphenylalaninemia (HPA) |
Swiss-Prot | VAR_000978 | Disease | p.THR278ALA | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000979 | Disease | p.THR278ASN | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000893 | Disease | p.THR124ILE | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000889 | Disease | p.THR92ILE | Phenylketonuria (PKU) |
Swiss-Prot | VAR_001022 | Disease | p.THR380MET | Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) |
Swiss-Prot | VAR_000941 | Disease | p.THR238PRO | Phenylketonuria (PKU) |
Swiss-Prot | VAR_001040 | Disease | p.THR418PRO | Phenylketonuria (PKU) |
Swiss-Prot | VAR_001020 | Disease | p.THR372SER | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000899 | Disease | p.TYR154ASN | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000925 | Disease | p.TYR206ASP | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000977 | Disease | p.TYR277ASP | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000924 | Disease | p.TYR204CYS | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000976 | Disease | p.TYR277CYS | Phenylketonuria (PKU) |
Swiss-Prot | VAR_009245 | Disease | p.TYR325CYS | Phenylketonuria (PKU) |
Swiss-Prot | VAR_001008 | Disease | p.TYR343CYS | Phenylketonuria (PKU) |
Swiss-Prot | VAR_001021 | Disease | p.TYR377CYS | Phenylketonuria (PKU) |
Swiss-Prot | VAR_001023 | Disease | p.TYR386CYS | Phenylketonuria (PKU) |
Swiss-Prot | VAR_001038 | Disease | p.TYR414CYS | Phenylketonuria (PKU) |
Swiss-Prot | VAR_001024 | Disease | p.TYR387HIS | Phenylketonuria (PKU) |
Swiss-Prot | VAR_068008 | Disease | p.TYR417HIS | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000917 | Disease | p.VAL190ALA | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000949 | Disease | p.VAL245ALA | Phenylketonuria (PKU) |
Swiss-Prot | VAR_067994 | Disease | p.VAL45ALA | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000950 | Disease | p.VAL245GLU | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000938 | Disease | p.VAL230ILE | Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) |
Swiss-Prot | VAR_000915 | Disease | p.VAL177LEU | Phenylketonuria (PKU) |
Swiss-Prot | VAR_000951 | Disease | p.VAL245LEU | Phenylketonuria (PKU) |
Swiss-Prot | VAR_001025 | Disease | p.VAL388LEU | Phenylketonuria (PKU) |
Swiss-Prot | VAR_068002 | Disease | p.VAL177MET | Hyperphenylalaninemia (HPA) |
Swiss-Prot | VAR_001026 | Disease | p.VAL388MET | Phenylketonuria (PKU) |
OMIM | 612349.0042 | Disease | p.ALA322GLY | HYPERPHENYLALANINEMIA, NON-PKU MILD |
OMIM | 612349.0028 | Disease | p.ALA259VAL | PHENYLKETONURIA |
OMIM | 612349.0056 | Disease | p.ALA47VAL | HYPERPHENYLALANINEMIA, NON-PKU |
OMIM | 612349.0010 | Disease | p.ARG158GLN | PHENYLKETONURIA |
OMIM | 612349.0014 | Disease | p.ARG243GLN | PHENYLKETONURIA |
OMIM | 612349.0006 | Disease | p.ARG261GLN | PHENYLKETONURIA |
OMIM | 612349.0038 | Disease | p.ARG408GLN | PHENYLKETONURIA |
OMIM | 612349.0058 | Disease | p.ARG176LEU | HYPERPHENYLALANINEMIA, NON-PKU |
OMIM | 612349.0016 | Disease | p.ARG413PRO | PHENYLKETONURIA |
OMIM | 612349.0005 | Disease | p.ARG111TER | PHENYLKETONURIA |
OMIM | 612349.0011 | Disease | p.ARG243TER | PHENYLKETONURIA |
OMIM | 612349.0036 | Disease | p.ARG261TER | PHENYLKETONURIA |
OMIM | 612349.0007 | Disease | p.ARG252TRP | PHENYLKETONURIA |
OMIM | 612349.0002 | Disease | p.ARG408TRP | PHENYLKETONURIA |
OMIM | 612349.0043 | Disease | p.ASP415ASN | HYPERPHENYLALANINEMIA, NON-PKU |
OMIM | 612349.0035 | Disease | p.GLU221GLY | PHENYLKETONURIA |
OMIM | 612349.0051 | Disease | p.GLU390GLY | HYPERPHENYLALANINEMIA, NON-PKU||PHENYLKETONURIA, INCLUDED |
OMIM | 612349.0067 | Disease | p.GLU76GLY | HYPERPHENYLALANINEMIA, NON-PKU |
OMIM | 612349.0004 | Disease | p.GLU280LYS | PHENYLKETONURIA |
OMIM | 612349.0055 | Disease | p.GLY46SER | PHENYLKETONURIA |
OMIM | 612349.0020 | Disease | p.GLY272TER | PHENYLKETONURIA |
OMIM | 612349.0063 | Disease | p.ILE65THR | PHENYLKETONURIA |
OMIM | 612349.0044 | Disease | p.ILE306VAL | HYPERPHENYLALANINEMIA, NON-PKU |
OMIM | 612349.0050 | Disease | p.LEU333PHE | HYPERPHENYLALANINEMIA, NON-PKU |
OMIM | 612349.0003 | Disease | p.LEU311PRO | PHENYLKETONURIA |
OMIM | 612349.0026 | Disease | p.LEU255SER | PHENYLKETONURIA |
OMIM | 612349.0034 | Disease | p.LEU48SER | PHENYLKETONURIA |
OMIM | 612349.0053 | Disease | p.LEU98SER | HYPERPHENYLALANINEMIA, NON-PKU MILD |
OMIM | 612349.0039 | Disease | p.PHE299CYS | PHENYLKETONURIA |
OMIM | 612349.0031 | Disease | p.PHE39LEU | PHENYLKETONURIA |
OMIM | 612349.0047 | Disease | p.PRO244LEU | PHENYLKETONURIA |
OMIM | 612349.0012 | Disease | p.PRO281LEU | PHENYLKETONURIA |
OMIM | 612349.0062 | Disease | p.PRO407LEU | PHENYLKETONURIA |
OMIM | 612349.0032 | Disease | p.SER349ARG | PHENYLKETONURIA |
OMIM | 612349.0057 | Disease | p.SER87ARG | HYPERPHENYLALANINEMIA, NON-PKU |
OMIM | 612349.0023 | Disease | p.SER273PHE | PHENYLKETONURIA |
OMIM | 612349.0041 | Disease | p.SER349PRO | PHENYLKETONURIA |
OMIM | 612349.0052 | Disease | p.SER359TER | PHENYLKETONURIA |
OMIM | 612349.0054 | Disease | p.THR380MET | HYPERPHENYLALANINEMIA, NON-PKU |
OMIM | 612349.0015 | Disease | p.TRP326TER | PHENYLKETONURIA |
OMIM | 612349.0029 | Disease | p.TYR277ASP | PHENYLKETONURIA |
OMIM | 612349.0013 | Disease | p.TYR204CYS | PHENYLKETONURIA |
OMIM | 612349.0017 | Disease | p.TYR414CYS | HYPERPHENYLALANINEMIA, NON-PKU |
OMIM | 612349.0019 | Disease | p.TYR356TER | PHENYLKETONURIA |
OMIM | 612349.0059 | Disease | p.VAL245ALA | HYPERPHENYLALANINEMIA, NON-PKU |
OMIM | 612349.0045 | Disease | p.VAL388MET | PHENYLKETONURIA |